Poster presentations: Tetralogy of fallot, imperforate anus, mullerian, renal, and cervical spine (Murcs) Anomalies in a 15 year old girl

Abstract

BACKGROUND: Our patient is a 15-year-old African-American female with Tetrology of Fallot, imperforate anus, anomalous ureters, mullerian anomaly and fusion of cervical spine vertebra.METHODS: Case report, review of the literature.RESULTS: DM is a 15yo African American with a history of Tetrology of Fallot, imperforate anus and anomalous ureters, all of which were repaired in infancy. She presents to the UIC Pediatric and Adolescent Service with primary amenorrhea and cyclical abdominal pain. Office evaluation reveals a healthy young woman without phenotypic abnormalities and an apparently normal secondary sexual development. However, gynecologic exam demonstrates a shortened vagina without a bulging hymen. Magnetic resonance imaging reveals uterus didelphus, with uterine cervical anatomy not able to be delineated. Ultrasound reveals a cyst in the right ovary consistent with a corpus luteum; there is no evidence of a fluid collection in either horn of the uterus. Vaginoscopy reveals a blind vaginal pouch with no visible cervix. Spinal x-rays reveal partial fusion of the cervical spine at C2-3. Chromosomal analysis and molecular evaluation for fragile X show a normal karyotype (46,XX) with a normal, non-carrier FraX region. Endocrinologic studies were obtained: FSH 1.3, LH 3.0, prolactin 6, and estradiol of 85.2. A progesterone challenge was done but did not result in a withdrawal bleed. The patient was started on a GnRH agonist regimen for suppression of putative endometriosis, which is thought to be the source of her pain. Exploratory laparoscopy and possible hysterectomy will be offered in the near future.CONCLUSION: MURCS (Mullerian, Renal, Cervical Spine) is a well-described grouping of multi-organic, non-lethal abnormalities that are infrequently detected in women with menstrual abnormalities. Such women are usually characterized by normal chromosome complements and the absence of other malformations. However, the aforementioned constellation of anomalies has not been previously described in the literature. The association of MURCS with cardiac and anorectal abnormalities may be one of coincidence or may indicate that the abnormalities share common genetic or environmental (cellular or microbiologic) etiologies. Further studies and reports are needed to determine the potential etiological and clinical impact of our report.